Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy

This publication has 38 references indexed in Scilit:

• Mitochondrial Ferredoxin Is Required for Heme A Synthesis inSaccharomyces cerevisiae
  Journal of Biological Chemistry, 2002
• Cytochrome c oxidase deficiency
  American Journal of Medical Genetics, 2001
• Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy
  American Journal of Human Genetics, 2000
• SURFEIT-1 Gene Analysis and Two-Dimensional Blue Native Gel Electrophoresis in Cytochrome c Oxidase Deficiency
  Biochemical and Biophysical Research Communications, 1999
• Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain
  Genomics, 1998
• A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
  Journal of Medical Genetics, 1998
• Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels
  Electrophoresis, 1997
• Construction and use of a safe and efficient amphotropic packaging cell line
  Virology, 1988
• A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding
  Analytical Biochemistry, 1976
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
  Analytical Biochemistry, 1976